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humans (93) 93
frasier syndrome (89) 89
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base sequence (9) 9
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gene mutations (9) 9
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alternative splicing (8) 8
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1. Full Text Genotype–phenotype associations in WT1 glomerulopathy
by Lipska, Beata S and Ranchin, Bruno and Iatropoulos, Paraskevas and Gellermann, Jutta and Melk, Anette and Ozaltin, Fatih and Caridi, Gianluca and Seeman, Tomas and Tory, Kalman and Jankauskiene, Augustina and Zurowska, Aleksandra and Szczepanska, Maria and Wasilewska, Anna and Harambat, Jerome and Trautmann, Agnes and Peco-Antic, Amira and Borzecka, Halina and Moczulska, Anna and Saeed, Bassam and Bogdanovic, Radovan and Kalyoncu, Mukaddes and Simkova, Eva and Erdogan, Ozlem and Vrljicak, Kristina and Teixeira, Ana and Azocar, Marta and Schaefer, Franz and PodoNet Consortium
Kidney international, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1169 - 1178
Denys–Drash syndrome | diffuse mesangial sclerosis | Frasier syndrome | steroid-resistant nephrotic syndrome | focal segmental glomerulosclerosis | WT1 | Denys-Drash syndrome | Steroid-resistant nephrotic syndrome | Diffuse mesangial sclerosis | Focal segmental glomerulosclerosis | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Prevalence | Prognosis | Glomerulosclerosis, Focal Segmental - genetics | Humans | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Genetic Testing - methods | Nephrotic Syndrome - congenital | Incidence | Renal Insufficiency, Chronic - epidemiology | Renal Insufficiency, Chronic - therapy | Time Factors | DNA Mutational Analysis | Renal Insufficiency, Chronic - genetics | Female | Registries | Renal Insufficiency, Chronic - diagnosis | Nephrotic Syndrome - therapy | Child | Nephrotic Syndrome - diagnosis | WT1 Proteins - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Glomerulosclerosis, Focal Segmental - epidemiology | Risk Factors | Disease Progression | Glomerulosclerosis, Focal Segmental - diagnosis | Phenotype | Age of Onset | Nephrotic Syndrome - epidemiology | Glomerulosclerosis, Focal Segmental - therapy | Mutation | Index Medicus
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2. Full Text The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations
by Stefanidis, Constantinos J and Querfeld, Uwe
European journal of pediatrics, ISSN 0340-6199, 11/2011, Volume 170, Issue 11, pp. 1377 - 1383
Pediatrics | Frasier syndrome | Medicine & Public Health | WT1-associated glomerulopathies | Denys–Drash syndrome | Steroid-resistant nephrotic syndrome | Wilms’ tumour suppressor gene ( WT1 ) mutations | Cyclosporin A | Denys-Drash syndrome | Wilms' tumour suppressor gene (WT1) mutations | Life Sciences & Biomedicine | Science & Technology | Glomerulonephritis | Nephrology. Urinary tract diseases | Biological and medical sciences | General aspects | Medical sciences | Nephropathies. Renovascular diseases. Renal failure | Age Factors | Cyclosporine - pharmacology | Humans | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Nephrotic Syndrome - drug therapy | Molecular Targeted Therapy | Frasier Syndrome - genetics | Female | Angiotensin-Converting Enzyme Inhibitors - pharmacology | Drug Therapy, Combination | Denys-Drash Syndrome - drug therapy | Immunosuppressive Agents - pharmacology | Drug Resistance | Immunosuppressive Agents - administration & dosage | Infant, Newborn | Angiotensin-Converting Enzyme Inhibitors - administration & dosage | Methylprednisolone - pharmacology | Genes, Wilms Tumor | Podocytes - drug effects | Nephrotic Syndrome - physiopathology | Cyclosporine - administration & dosage | Frasier Syndrome - drug therapy | Mutation | Methylprednisolone - administration & dosage | Enzymes | Enzyme inhibitors | Genes | Nephrotic syndrome | Genetic aspects | Physicians (General practice) | Cyclosporine | Index Medicus
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3. Full Text Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome
by Kumar, Aravind and Srilakshmi, R and Karthickeyan, SMK and Balakrishnan, K and Padmaraj, R and Senguttuvan, Prabha
Indian journal of medical research (New Delhi, India : 1994), ISSN 0971-5916, 8/2016, Volume 144, Issue 2, pp. 276 - 280
Denys-drash syndrome | Wilms’ tumour 1 | Frasier syndrome | Steroid-resistant nephrotic syndrome | Focal segmental glomerulosclerosis | Indian children | Immunology | Life Sciences & Biomedicine | Medicine, General & Internal | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glomerulosclerosis, Focal Segmental - genetics | Humans | Kidney Failure, Chronic - drug therapy | Child, Preschool | Gonads - pathology | Nephrotic Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Drug Resistance - genetics | Kidney Failure, Chronic - pathology | Glomerulosclerosis, Focal Segmental - drug therapy | Female | Steroids - therapeutic use | Mutation | Gonads - surgery | Child | WT1 Proteins - genetics | Glomerulosclerosis, Focal Segmental - pathology | Gene mutations | Genetic aspects | Nephrotic syndrome | Children | Nephroblastoma | Health aspects | Diseases | Genotype & phenotype | Nephrology | Biopsy | Boys | Females | Girls | Deoxyribonucleic acid--DNA | Age | Children & youth | Index Medicus | Denys-Drash syndrome | steroid-resistant nephrotic syndrome | focal segmental glomerulosclerosis | Original | Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1
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4. Full Text Laparoscopically removed streak gonad revealed gonadoblastoma in frasier syndrome
by Hashimoto, Kazunori and Horibe, Yu and Ezaki, Jiro and Kanno, Toshiyuki and Takahashi, Nobuko and Akizawa, Yoshika and Matsui, Hideo and Yamamoto, Tomoko and Shibata, Noriyuki
Anticancer research, ISSN 0250-7005, 07/2017, Volume 37, Issue 7, pp. 3975 - 3979
Gonadoblastoma | Case report | Streak gonad | WT1 gene mutation | Fraiser syndrome | Ovariectomy | Humans | Tomography, X-Ray Computed | Salpingectomy | Frasier Syndrome - genetics | Ovarian Neoplasms - diagnostic imaging | Gonadoblastoma - diagnostic imaging | Frasier Syndrome - surgery | Adolescent | Gonadal Dysgenesis, 46,XY | Female | Mutation | Frasier Syndrome - complications | WT1 Proteins - genetics | Index Medicus
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5. Full Text OC8 High prevalence of wt1 gene mutations in patients with steroid-resistant nephrotic syndrome
by Sladkov, Dmitry and Savostyanov, Kirill and Nikitin, Alexey and Zhurkova, Natalya and Pakhomov, Alexander and Rykunova, Anastasia and Anan’in, Peter and Tsygin, Alexey
Archives of disease in childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A4
End-stage renal disease | Pediatrics | Transcription | Childrens health | Genetic screening | Denys-Drash syndrome | Next-generation sequencing | Children | Bioinformatics | Age | Phenotypes | Frasier syndrome | Genetic disorders | Kidneys | Hematuria | Splicing | Nephrotic syndrome | Patients | Hereditary diseases | Computer programs | WT1 protein | Biopsy | Morphology | Renal failure | Mutation | Kidney diseases | Proteinuria | Structure-function relationships
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6. Full Text A familial WT1 mutation associated with incomplete Denys–Drash syndrome
by Zhu, Chunhua and Zhao, Fei and Zhang, Weizhen and Wu, Hongmei and Chen, Ying and Ding, Guixia and Zhang, Aihua and Huang, Songming
European journal of pediatrics, ISSN 0340-6199, 10/2013, Volume 172, Issue 10, pp. 1357 - 1362
Pediatrics | Frasier syndrome | Medicine & Public Health | Denys–Drash syndrome | Family | WT1 gene mutation | Children | Denys-Drash syndrome | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Humans | Child, Preschool | Exons - genetics | Female | Male | Denys-Drash Syndrome - genetics | Mutation, Missense | Disorders of Sex Development - genetics | WT1 Proteins - genetics | Hernia | Genetic aspects | Gene mutations | Genes | Tumors | Index Medicus
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7. Full Text Gonadal tumor in Frasier syndrome: A review and classification
by Ezaki, Jiro and Hashimoto, Kazunori and Asano, Tatsuo and Kanda, Shoichiro and Akioka, Yuko and Hattori, Motoshi and Yamamoto, Tomoko and Shibata, Noriyuki
Cancer prevention research (Philadelphia, Pa.), ISSN 1940-6207, 04/2015, Volume 8, Issue 4, pp. 271 - 276
Life Sciences & Biomedicine | Oncology | Science & Technology | Humans | Neoplasms, Germ Cell and Embryonal - etiology | Frasier Syndrome - pathology | Gonads - pathology | Neoplasms, Germ Cell and Embryonal - classification | Female | Male | Frasier Syndrome - complications | Neoplasms, Germ Cell and Embryonal - pathology | Index Medicus
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8. Full Text WT1 and glomerular diseases
by Niaudet, Patrick and Gubler, Marie-Claire
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 11/2006, Volume 21, Issue 11, pp. 1653 - 1660
Pediatrics | Denys-Drash syndrome | Nephrology | Frasier syndrome | WT1 gene | Wilms’ tumor | Medicine & Public Health | Diffuse mesangial sclerosis | Glomerular disease | FSGS | Urology | Wilms' tumor | Wilms Tumor - genetics | Kidney Diseases - pathology | Humans | Frasier Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Genetic Counseling | Kidney Diseases - genetics | Wilms Tumor - pathology | Chromosomes, Human, X | Frasier Syndrome - genetics | Sclerosis - genetics | Chromosomes, Human, Y | Glomerular Mesangium - pathology | Genes, Wilms Tumor | Sclerosis - pathology | Female | Mutation | Child | Denys-Drash Syndrome - pathology | Index Medicus
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9. Full Text Malformation syndromes associated with disorders of sex development
by Hutson, John M and Grover, Sonia R and O'Connell, Michele and Pennell, Samuel D
Nature reviews. Endocrinology, ISSN 1759-5029, 2014, Volume 10, Issue 8, pp. 476 - 487
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Genitalia - abnormalities | Gonadal Dysgenesis - genetics | Humans | Hypertelorism - genetics | Hypospadias - genetics | Male | Cleft Palate - genetics | Denys-Drash Syndrome - genetics | Disorders of Sex Development - genetics | Esophagus - abnormalities | Frasier Syndrome - genetics | Hypogonadism - genetics | Mental Retardation, X-Linked - genetics | Animals | Gonadal Dysgenesis, 46,XY - genetics | Turner Syndrome - genetics | Female | Genetic Diseases, X-Linked - genetics | alpha-Thalassemia - genetics | WAGR Syndrome - genetics | Embryonic development | Gene mutations | Genetic aspects | Research | Health aspects | Sexual disorders | Risk factors | Index Medicus
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10. Full Text WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes
by Aucella, Filippo and Bisceglia, Luigi and De Bonis, Patrizia and Gigante, Maddalena and Caridi, Gianluca and Barbano, Giancarlo and Mattioli, Gerolamo and Perfumo, Francesco and Gesualdo, Loreto and Ghiggeri, Gian Marco
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 10/2006, Volume 21, Issue 10, pp. 1393 - 1398
Pediatrics | Denys-Drash syndrome | Nephrology | Frasier syndrome | Medicine & Public Health | Focal segmental glomerulosclerosis | WT1 | Nephrotic syndrome | Urology | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Genetic Testing | Prevalence | Age Factors | Kidney - pathology | Humans | Child, Preschool | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Nephrotic Syndrome - drug therapy | Frasier Syndrome - genetics | DNA Mutational Analysis | Karyotyping | Adult | Female | Steroids - pharmacology | Child | WT1 Proteins - genetics | Drug Resistance | Frasier Syndrome - pathology | Nephrotic Syndrome - pathology | Exons - genetics | Mutation - genetics | Phenotype | Adolescent | Sex Factors | Denys-Drash Syndrome - pathology | Index Medicus
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11. Full Text Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness
by Sinha, Aditi and Sharma, Sonika and Gulati, Ashima and Sharma, Alok and Agarwala, Sandeep and Hari, Pankaj and Bagga, Arvind
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 10/2010, Volume 25, Issue 10, pp. 2171 - 2174
Gonadoblastoma | Pediatrics | WT1 gene | Cyclosporine | Medicine & Public Health | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Glomerulosclerosis, Focal Segmental - genetics | Humans | Immunosuppressive Agents - therapeutic use | Child, Preschool | Male | Nephrotic Syndrome - genetics | Frasier Syndrome - genetics | Cyclosporine - therapeutic use | Genes, Wilms Tumor | Gonadoblastoma - genetics | Female | Frasier Syndrome - drug therapy | Mutation | Frasier Syndrome - complications | Child | Index Medicus
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